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rs672601343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601343(-;-)
Make rs672601343(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position31116869
GeneCDSN, PSORS1C1
is asnp
is mentioned by
dbSNPrs672601343
dbSNP (classic)rs672601343
ClinGenrs672601343
ebirs672601343
HLIrs672601343
Exacrs672601343
Gnomadrs672601343
Varsomers672601343
LitVarrs672601343
Maprs672601343
PheGenIrs672601343
Biobankrs672601343
1000 genomesrs672601343
hgdprs672601343
ensemblrs672601343
geneviewrs672601343
scholarrs672601343
googlers672601343
pharmgkbrs672601343
gwascentralrs672601343
openSNPrs672601343
23andMers672601343
SNPshotrs672601343
SNPdbers672601343
MSV3drs672601343
GWAS Ctlgrs672601343
Max Magnitude0
ClinVar
Risk rs672601343(-;-)
Alt rs672601343(-;-)
Reference Rs672601343(G;G)
Significance Pathogenic
Disease Peeling skin syndrome
Variation info
Gene CDSN PSORS1C1
CLNDBN Peeling skin syndrome
Reversed 1
HGVS NC_000006.11:g.31084646delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144907.4,